DISEASES

Disease-gene associations mined from literature

Human genes for fructose-1,6-bisphosphatase deficiency

Fructose-1,6-bisphosphatase deficiency [DOID:5204]

A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.

Synonyms:  fructose-1,6-bisphosphatase deficiency,  DOID:5204,  fructose16bisphosphatase deficiency,  fructose 1 phosphate aldolase deficiency,  fructose-1,6-diphosphatase deficiency ...